For many of the conditions discussed in this chapter, a correct diagnosis could lead to meaningful, and in some cases, life-saving therapies or interventions. This is a highly heterogeneous group of systemic diseases that often require specialty care due to potentially severe associated morbidities and mortality. Important diagnostic and prognostic questions that arise in evaluating a patient who presents with retinal degeneration include the following:
Retinal Degeneration With Systemic Involvement
Pigmentary retinopathy and retinal degenerations may be associated with a wide spectrum of genetic or acquired diseases. The term pigmentary retinopathy refers broadly to a panretinal disturbance of the retina and retinal pigment epithelium (RPE). Pigment deposits define most pigmentary retinopathies and typically present in the form of pigment clumps or spicules, but some diseases have a generalized depigmentation characterized by atrophy and little or no pigment deposition. This section summarizes some important examples of these disorders (Table 14-1).
Infantile-Onset to Early Childhood–Onset Syndromes
Leber congenital amaurosis (LCA) should be considered in any infant suspected of poor or declining vision if a severely diminished or extinguished electroretinogram (ERG) signal is present at birth (also see Chapter 13). If the ERG signal is diminished and the changes are progressive, evaluation should include careful screening for congenital syndromes and metabolic disorders that affect the retina.
den Hollander AI, Roepman R, Koenekoop RK, Cremers FP. Leber congenital amaurosis: genes, proteins and disease mechanisms. Prog Retin Eye Res. 2008:27(4):391–419.
Excerpted from BCSC 2020-2021 series: Section 10 - Glaucoma. For more information and to purchase the entire series, please visit https://www.aao.org/bcsc.